Allele Registry

Canonical Allele Identifier: PA099354

Gene: HEXA HGNC NCBI

ClinVar RCV:

RCV000004131

RCV002345229

ClinVar Variation:

3925

HGVS (amino-acid)	Matching Registered Transcripts
NP_000511.2:p.Arg170Trp	CA252927 NM_000520.6:c.508C>T